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Article

Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.

Developmental neurobiology - 1 Jan 2026

Ünsel-Bolat Gül, Genç-Akdağ Dilan, Bolat Hilmi

Abstract excerpt

The SET domain containing the 2 (SETD2) gene encodes a histone methyltransferase responsible for H3K36me3 modification, playing key roles in transcriptional regulation, RNA splicing, and DNA repair. Pathogenic variants in SETD2 have been linked to variable phenotypes, including Luscan-Lumish syndrome (LLS, OMIM #616831), autosomal dominant intellectual developmental disorder 70 (MRD70, OMIM #620157), and...

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Source

Identifiers

PMID: 41466099
DOI: 10.1002/dneu.70002

Genes

SETD2
SET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.PMID 41466099Read ↗

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.Semantic proximity Read ↗

Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.Semantic proximity Read ↗

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.Semantic proximity Read ↗

Genotype-phenotype correlation at codon 1740 of SETD2.Semantic proximity Read ↗

SETD1B-associated neurodevelopmental disorder.Semantic proximity Read ↗

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.Semantic proximity Read ↗

A germline SETD2 variant and malignant phyllodes tumor: extending the spectrum of SETD2-related tumor predispositionSemantic proximity Read ↗

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.Semantic proximity Read ↗

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.Semantic proximity Read ↗

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.Semantic proximity Read ↗

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.Semantic proximity Read ↗

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.Semantic proximity Read ↗

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